• Gene id: 81570

Gene Summary

• Gene Symbol: CLPB   Gene   UCSC   Ensembl
• Aliases: ANKCLB, HSP78, MEGCANN, MGCA7, SKD3
• Gene name: caseinolytic mitochondrial matrix peptidase chaperone subunit B
• Alternate names: caseinolytic peptidase B protein homolog, ClpB caseinolytic peptidase B homolog, ClpB homolog, mitochondrial AAA ATPase chaperonin, ankyrin-repeat containing bacterial clp fusion, suppressor of potassium transport defect 3, testicular secretory protein Li 11,
• Gene location: 11q13.4 (72434683: 72285494)     Exons: 20     NC_000011.10
• Gene summary(Entrez): This gene belongs to the ATP-ases associated with diverse cellular activities (AAA+) superfamily. Members of this superfamily form ring-shaped homo-hexamers and have highly conserved ATPase domains that are involved in various processes including DNA repl
• OMIM: 616254

Protein Summary

• Protein general information: Q9H078  
  • Name: Caseinolytic peptidase B protein homolog (EC 3.6.1.3) (Suppressor of potassium transport defect 3)
  • Length: 707  
  • Mass: 78729
  • Tissue specificity: Widely expressed (at protein level) (PubMed
• Sequence:

  MLGSLVLRRKALAPRLLLRLLRSPTLRGHGGASGRNVTTGSLGEPQWLRVATGGRPGTSPALFSGRGAATGGRQG
  GRFDTKCLAAATWGRLPGPEETLPGQDSWNGVPSRAGLGMCALAAALVVHCYSKSPSNKDAALLEAARANNMQEV
  SRLLSEGADVNAKHRLGWTALMVAAINRNNSVVQVLLAAGADPNLGDDFSSVYKTAKEQGIHSLEDGGQDGASRH
  ITNQWTSALEFRRWLGLPAGVLITREDDFNNRLNNRASFKGCTALHYAVLADDYRTVKELLDGGANPLQRNEMGH
  TPLDYAREGEVMKLLRTSEAKYQEKQRKREAEERRRFPLEQRLKEHIIGQESAIATVGAAIRRKENGWYDEEHPL
  VFLFLGSSGIGKTELAKQTAKYMHKDAKKGFIRLDMSEFQERHEVAKFIGSPPGYVGHEEGGQLTKKLKQCPNAV
  VLFDEVDKAHPDVLTIMLQLFDEGRLTDGKGKTIDCKDAIFIMTSNVASDEIAQHALQLRQEALEMSRNRIAENL
  GDVQISDKITISKNFKENVIRPILKAHFRRDEFLGRINEIVYFLPFCHSELIQLVNKELNFWAKRAKQRHNITLL
  WDREVADVLVDGYNVHYGARSIKHEVERRVVNQLAAAYEQDLLPGGCTLRITVEDSDKQLLKSPELPSPQAEKRL
  PKLRLEIIDKDSKTRRLDIRAPLHPEKVCNTI

• Structural information:
  • Interpro: IPR003593  IPR002110  IPR020683  IPR036770  IPR003959   IPR019489  IPR001270  IPR027417  
  • Prosite: PS50297 PS50088
  • STRING: ENSP00000294053
• Other Databases: GeneCards:  CLPB  Malacards:  CLPB

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0039529	RIG-I signaling pathway	IDA	biological process
GO:0140374	antiviral innate immune response	IDA	biological process
GO:0005758	mitochondrial intermembrane space	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016887	ATPase activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0034605	cellular response to heat	IDA	biological process
GO:0003674	molecular_function	ND	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04213	Longevity regulating pathway - multiple species

Diseases

Associated diseases	References
3-Methylglutaconic aciduria	KEGG:H00754
3-Methylglutaconic aciduria	KEGG:H00754
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospermatogenesis	MIK: 28361989
Non obstructive azoospermia	MIK: 24012201
Sertoli cell only syndrome	MIK: 23869807
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R